Mutagenetix > Incidental Mutation

Incidental Mutation 'R5317:Pdgfa'

405866

Institutional Source

Beutler Lab

Gene Symbol

Pdgfa

Ensembl Gene

ENSMUSG00000025856

Gene Name

platelet derived growth factor, alpha

Synonyms

MMRRC Submission

042900-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5317 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

138961769-138983125 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 138974102 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000106522 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046901] [ENSMUST00000076095] [ENSMUST00000110896] [ENSMUST00000110896] [ENSMUST00000110897] [ENSMUST00000110897]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000046901

SMART Domains

Protein: ENSMUSP00000038870
Gene: ENSMUSG00000025856

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
PDGF	94	181	1.5e-47	SMART
low complexity region	189	207	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000076095

SMART Domains

Protein: ENSMUSP00000075463
Gene: ENSMUSG00000025856

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
PDGF	94	181	2.98e-45	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000110896

SMART Domains

Protein: ENSMUSP00000106521
Gene: ENSMUSG00000025856

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
PDGF	94	181	2.98e-45	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000110896

SMART Domains

Protein: ENSMUSP00000106521
Gene: ENSMUSG00000025856

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
PDGF	94	181	2.98e-45	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000110897

SMART Domains

Protein: ENSMUSP00000106522
Gene: ENSMUSG00000025856

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
PDGF	94	181	2.98e-45	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000110897

SMART Domains

Protein: ENSMUSP00000106522
Gene: ENSMUSG00000025856

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
PDGF	94	181	2.98e-45	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124080

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132051

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144934

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the protein family comprised of both platelet-derived growth factors (PDGF) and vascular endothelial growth factors (VEGF). The encoded preproprotein is proteolytically processed to generate platelet-derived growth factor subunit A, which can homodimerize, or alternatively, heterodimerize with the related platelet-derived growth factor subunit B. These proteins bind and activate PDGF receptor tyrosine kinases, which play a role in a wide range of developmental processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygotes for a targeted null mutation die either before E10.0 or postnatally. The latter exhibit lung emphysema, reduced numbers of oligodendrocytes, tremors, and abnormalities of the skin, hair follicles, and gastrointestinal lining. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arih1	A	C	9: 59,300,619 (GRCm39)	H542Q	probably benign	Het
Ccn4	T	G	15: 66,789,131 (GRCm39)	S206A	probably benign	Het
Cnot8	T	C	11: 58,004,029 (GRCm39)	S155P	probably damaging	Het
Dcc	C	T	18: 71,517,226 (GRCm39)	E810K	possibly damaging	Het
Dmrt2	T	C	19: 25,650,844 (GRCm39)	V10A	probably benign	Het
Dnah17	G	A	11: 118,018,109 (GRCm39)	R129W	possibly damaging	Het
Eif4a3	G	T	11: 119,185,490 (GRCm39)	H117N	probably damaging	Het
Fhip2a	T	A	19: 57,370,141 (GRCm39)		probably null	Het
Gpr179	T	A	11: 97,228,671 (GRCm39)	Q1161H	probably damaging	Het
Grm1	T	G	10: 10,622,443 (GRCm39)	M427L	possibly damaging	Het
Grxcr2	T	A	18: 42,131,916 (GRCm39)	H51L	probably damaging	Het
Il1rn	C	T	2: 24,239,554 (GRCm39)	T150I	probably benign	Het
Kcnc4	C	T	3: 107,366,055 (GRCm39)	R51H	probably damaging	Het
Kcnh3	T	C	15: 99,125,822 (GRCm39)	S160P	probably benign	Het
Lrrc37	T	C	11: 103,504,971 (GRCm39)	I2332M	possibly damaging	Het
Mcm9	G	A	10: 53,414,330 (GRCm39)	P250L	probably damaging	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mtmr2	T	C	9: 13,704,475 (GRCm39)	F201L	probably benign	Het
Or8s5	G	A	15: 98,238,246 (GRCm39)	A208V	probably benign	Het
Pan3	T	C	5: 147,480,020 (GRCm39)		probably null	Het
Pcdhgb7	T	A	18: 37,885,887 (GRCm39)	D352E	probably benign	Het
Pkhd1	T	C	1: 20,520,528 (GRCm39)	D1938G	probably damaging	Het
Plac8	C	T	5: 100,704,345 (GRCm39)		probably null	Het
Rab11fip3	T	C	17: 26,287,052 (GRCm39)	E367G	possibly damaging	Het
Sgo2a	C	T	1: 58,054,683 (GRCm39)	P289L	probably benign	Het
Slc22a18	T	C	7: 143,052,896 (GRCm39)	Y374H	probably damaging	Het
Slco2a1	T	C	9: 102,956,778 (GRCm39)	V530A	probably benign	Het
Spty2d1	A	T	7: 46,648,049 (GRCm39)	S293R	possibly damaging	Het
Stt3b	G	T	9: 115,081,578 (GRCm39)	Y569*	probably null	Het
Tas2r140	A	G	6: 133,032,543 (GRCm39)	Y72H	probably benign	Het
Usp35	C	T	7: 96,960,846 (GRCm39)	R860H	probably damaging	Het
Vmn2r130	T	A	17: 23,282,557 (GRCm39)	M79K	probably benign	Het
Vsig10l	T	C	7: 43,114,247 (GRCm39)	S190P	probably damaging	Het
Wwc2	C	T	8: 48,300,590 (GRCm39)	D958N	unknown	Het
Zfp318	AAGAAGG	A	17: 46,723,463 (GRCm39)		probably benign	Het

Other mutations in Pdgfa

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00329:Pdgfa	APN	5	138,974,216 (GRCm39)	splice site	probably benign
IGL02219:Pdgfa	APN	5	138,971,950 (GRCm39)	missense	probably damaging	1.00
R1852:Pdgfa	UTSW	5	138,964,927 (GRCm39)	missense	probably benign	0.31
R3039:Pdgfa	UTSW	5	138,972,114 (GRCm39)	missense	probably benign	0.10
R4368:Pdgfa	UTSW	5	138,972,061 (GRCm39)	missense	probably damaging	1.00
R4647:Pdgfa	UTSW	5	138,964,939 (GRCm39)	missense	probably benign	0.14
R4773:Pdgfa	UTSW	5	138,979,051 (GRCm39)	missense	probably benign	0.03
R5262:Pdgfa	UTSW	5	138,979,049 (GRCm39)	missense	probably benign	0.06
R6009:Pdgfa	UTSW	5	138,964,954 (GRCm39)	missense	probably damaging	1.00
R8446:Pdgfa	UTSW	5	138,964,395 (GRCm39)	missense	unknown
R8992:Pdgfa	UTSW	5	138,971,977 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATGTTCCCCTCCTGGAAAC -3'
(R):5'- GCTCTGAAACCTGCTGTAGAAG -3'

Sequencing Primer
(F):5'- TCCTGGAAACTCTTGGCCCAG -3'
(R):5'- CCCAGCTGTTTAGGTCCCAG -3'

Posted On

2016-07-22